Evidence map›Paper›PMID 33920085›Full record

ReviewInternational journal of molecular sciences2021

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.

Evan M de Joya, Brett M Colbert, Pei-Ciao Tang, Byron L Lam, Jun Yang, Susan H Blanton, Derek M Dykxhoorn, Xuezhong Liu

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.0field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Multidisciplinary approach to inherited causes of dual sensory impairment.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024
    Review
  6. Review
  7. Article
  8. Identification of a novel compound heterozygous pathogenic variant inThe Journal of international medical research · 2023
    Article
  9. Article
  10. Review
  11. Review
  12. Review
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 1 country.

Evan M de JoyaDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0002-5259-1039
Brett M ColbertDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Pei-Ciao TangDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Byron L LamBascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL 33136, USA.
Jun YangJohn A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, UT 84132, USA.
Susan H BlantonDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0002-5433-3439
Derek M DykxhoornDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Xuezhong LiuDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0002-4758-6470
University of Miami · USUniversity of Utah · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
Molecular Genetics on Non Syndromic Hearing Loss (NSHL)R01DC005575 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2001 to 2024
$10.6M
Sensory disorders in COVID -19 as an early identifier and healthcare worker protectionR01DC012115 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2013 to 2022
$7.2M
NCATS NIH HHS UL1 TR002538NIH HHS R01DC005575NIH HHS R01DC012115
6 · The paper itself

Abstract

Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the only clinical manifestation, or syndromic, if the hearing loss is accompanied by a collage of other clinical manifestations. Usher syndrome is a syndromic form of genetic hearing loss that is accompanied by impaired vision associated with retinitis pigmentosa and, in many cases, vestibular dysfunction. It is the most common cause of deaf-blindness. Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has shown promise in treating Usher-related retinitis pigmentosa. Here we review how the etiologies of Usher-related hearing loss make it a good candidate for gene therapy and discuss how various forms of gene therapy could be applied to Usher-related hearing loss.

Indexed as

Genetic TherapyEar, InnerHearing LossHumansMutationRetinitis PigmentosaUsher Syndromesantisense oligonucleotidesCRISPRretinitis pigmentosasyndromic hearing loss

Identifiers

PMID33920085
PMCPMC8068832
OpenAlexW3156449441

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.